Abstract：
:International Union of Immunological Societies working group recently updated the human inborn errors of immunity. This classification includes 65 new disorders that have been added since the last classification in 2018. This article highlights the important aspects of new classification for the benefit of general pediatricians.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Bargir UA,Madkaikar MRsubject
Has Abstractpub_date
2020-06-15 00:00:00pages
565-567issue
6eissn
0019-6061issn
0974-7559journal_volume
57pub_type
杂志文章abstract：OBJECTIVE:To evaluate the effect of clofibrate for unconjugated hyperbilirubinemia in neonates. METHODS:A systematic review with meta-analysis of randomized controlled trials or quasi-randomized controlled trials was conducted to evaluate the clofibrate treatment in neonates with unconjugated hyperbilirubinemia. We fo...
journal_title：Indian pediatrics
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s13312-012-0012-x
更新日期：2012-01-01 00:00:00
abstract：:Seven hundred and fifty nine children in different sectors were covered in this study, which was undertaken by observational techniques, questionnaires and physical examination. All children belonged to the age group of 6-14 years. Nearly 30% children had migrated from neighbouring districts and states. Almost 88% wer...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1991-09-01 00:00:00
abstract：BACKGROUND:GM1 gangliosidosis is a disorder due to GLB1 gene mutation. CASE CHARACTERISTICS:A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. OUTCOME:Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. MESSAGE:We hi...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-015-0593-2
更新日期：2015-02-01 00:00:00
abstract：:We report on 16 children with ingestion of magnetic foreign bodies, who were identified by a medical record review of our hospital data for the time period between January, 2017 and May, 2018. Digestive tract wall was sandwiched in 13 (75%) children and 11 (74%) had gaptic intestinal perforation. ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2020-06-24 00:00:00
abstract：: ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2018-12-15 00:00:00
abstract：OBJECTIVE:To evaluate the frequency of non-autoimmune subclinical and overt hypothyroidism in children with idiopathic steroid-resistant nephrotic syndrome (SRNS). METHODS:This cross-sectional study recruited 30 children (age 1-18 y) with idiopathic SRNS; and 30 healthy controls. Serum T3, T4 and TSH were performed in...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-017-1183-2
更新日期：2017-11-15 00:00:00
abstract：OBJECTIVE:To study the incidence and risk factors predisposing to retinopathy of prematurity (ROP) and to assess the outcome after laser photocoagulation. DESIGN:Prospective cohort observational study. SETTING:Infants admitted to a neonatal intensive care unit of a referral hospital between 2000-2006 and followed up ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2009-03-01 00:00:00
abstract：:Eighty one pregnant women (20 +/- 2 weeks of gestation) were assessed for their nutritional status. They were divided into three groups; Group I women (n = 30) were given 200 mg ferrous sulphate (FeSO4) tablet per day for 15 weeks, Group II women (n = 25) were given FeSO4 tablets along with 2,000,000 IU of vitamin A a...
journal_title：Indian pediatrics
pub_type： 临床试验,杂志文章
doi：
更新日期：1995-08-01 00:00:00
abstract：:Thirty-two infants above one month of age admitted to a tertiary care hospital with signs of infection and presumptive diagnosis of sepsis were included. Cytokine levels of tumor necrosis factor alpha (TNFmu) and interleukin-6 (IL 6) were estimated at admission and after 48 to 72 hr, and their relationship examined to...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2005-10-01 00:00:00
abstract：:Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India. The aim was to study the clinical and molecular characteristics of patients ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-013-0168-z
更新日期：2013-06-08 00:00:00
abstract：:The phenotypic description of SHORT syndrome (OMIM- 269880) is expanding since its initial description in 1975. There have been 26 case reports till date but the genetic locus of this syndrome is elusive. Involvement of PITX2 gene initially envisaged is probably is not the only gene involved but has an important role ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-013-0099-8
更新日期：2013-04-01 00:00:00
abstract：:Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance....
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-011-0008-y
更新日期：2011-01-01 00:00:00
abstract：:The study aimed to explore the perception and knowledge-gain of undergraduate medical students during the Medical Council of India-mandated one month foundation course in August, 2019. A total of 129 consenting students who underwent the foundation course were enrolled and their feedback collected using an email-based...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2020-03-15 00:00:00
abstract：OBJECTIVE:To evaluate simple clinical signs of illness in young infants (0 to 2 months) and to correlate with WHO IMCI algorithm (7 days-2 months). DESIGN:Prospective observational. Study conducted in the outpatient department and emergency room of a pediatric tertiary level hospital. METHODS:Four hundred and ninety ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2006-12-01 00:00:00
abstract：OBJECTIVES:To evaluate efficacy of polymerase chain reaction (PCR), using the insertion sequence IS6110 as target for DNA, to detect Mycobacterium tuberculosis in body fluids of children with suspected tuberculosis (TB). SETTING:Hospitalized patients. METHODS:A comparison of PCR on body fluids, Acid Fast Bacilli stai...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2000-04-01 00:00:00
abstract：:Neural tube defects (NTD) comprise of a group of congenital malformations that include spina bifida, anencephaly and encephalocele. Reports have implicated zinc deficiency as one of the causative factors of NTDs. We compared the serum zinc level of 23 newborns having neural tube defects with 35 healthy controls by spe...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2006-09-01 00:00:00
abstract：OBJECTIVE:To identify the pattern of congenital heart defects (CHD) in children with Down Syndrome (DS) in an Omani population, and compare it with CHD in children without DS and with historical cohorts from populations with low prevalence of consanguinity. SETTING:Open-access Paediatric Echocardiography Clinic at Sul...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2003-05-01 00:00:00
abstract：:Idiopathic pulmonary hemosiderosis is conventionally treated with steroids, prolonged usage of which maybe deleterious and disease often recurs on tapering. We initiated hydroxy-chloroquine and azathioprine early in treatment along with steroids in seven children with idiopathic pulmonary hemosiderosis, and observed t...
journal_title：Indian pediatrics
pub_type： 信件
doi：
更新日期：2019-01-15 00:00:00
abstract：:Jaundice as a presenting feature of pediatric acute myeloid leukemia is rare. We report two cases of AML who presented with obstructive jaundice, one with a malignant stricture at the common bile duct and other with a granulocytic sarcoma obstructing the bile duct. The prognosis is poor in these patients. ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-05-01 00:00:00
abstract：:A 12-year-old male child reported with history of fever for last seven years. Hepatosplenomegaly, hepatic and bone marrow granulomas were the main features. Idiopathic Granulomatous Hepatitis (IGH), a rare syndrome amenable to immunosuppressive therapy was diagnosed. ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2004-06-01 00:00:00
abstract：:Hot water epilepsy (HWE) is a rare form of reflex epilepsy caused by bathing with hot water. In this paper, we describe three cases with hot water epilepsy. It occurs generally in children with normal psychomotor development and children continue to develop normally after seizure. HWE has usually a favorable prognosis...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2004-07-01 00:00:00
abstract：OBJECTIVE:To describe the clinical spectrum and factors associated with poor short-term outcomes in children with interstitial lung disease (ILD). DESIGN:Retrospective chart review SETTING:Pediatric Chest Clinic of a tertiary care hospital METHODOLOGY:We retrieved information regarding clinical course and laborato...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-013-0034-z
更新日期：2013-01-08 00:00:00
abstract：OBJECTIVE:To compare the impact of postnatal lactational counseling on the weight gain and frequency of mixed feeding in full term neonates. DESIGN:Observational study. SETTING:Mother-infant pairs were observed in the maternity section of a multispecialty general hospital in Mumbai during two time periods. PARTICIPA...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-015-0678-y
更新日期：2015-07-01 00:00:00
abstract：OBJECTIVE:To compare the effectiveness of tepid sponging and antipyretic drug versus only antipyretic drug among febrile children. DESIGN:Randomized controlled trial. SETTING:Tertiary care hospital. PARTICIPANTS:150 children 6 mo - 12 yr age with axillary temperature 101F. INTERVENTION:Tepid sponging and antipyreti...
journal_title：Indian pediatrics
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2009-02-01 00:00:00
abstract：:The year 2013 marks 50 years of both newborn screening and the Indian Academy of Pediatrics. India has seen a lot of change in terms of motivation, evolution and implementation of newborn screening as pilot projects for few disorders. Facilities for implementing screening using tandem mass spectrometry or what is term...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-013-0187-9
更新日期：2013-07-01 00:00:00
abstract：OBJECTIVE:To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. DESIGN:Descriptive study. SETTING:Tertiary-care medical genetics center. PATIENTS:Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypica...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2018-06-15 00:00:00
abstract：:Two hundred and forty four girls with different hemoglobin levels were selected, of which forty-one were non-anemic. The rest were graded as mildly, moderately or severely anemic and supplemented with 60 mg of iron daily or twice weekly for twelve weeks. There was no significant difference in the increase in hemoglobi...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2003-12-01 00:00:00
abstract：:Three hundred and fifty stool samples from patients with acute diarrhea and 30 samples from normal healthy controls were examined for the presence of various parasitic and bacterial enteropathogens by conventional techniques. Cryptosporidium oocysts were detected in 15 out of 350 (4.3%) fecal samples. In 10 cases (2.9...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1991-08-01 00:00:00
abstract：:Congenital hypoparathyroidism, growth retardation and dysmorphism is a rare autosomal recessive syndrome among Arab population commonly known as Sanjad-Sakati syndrome(SSS).Several metabolic and septic complications are known to manifest in the neonatal age. We describe the first report of morbid pathological fracture...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-010-0066-6
更新日期：2010-05-01 00:00:00
abstract：:Clinical and hematological data of 9 cases with factor XIII deficiency is highlighted. The age at first bleed ranged from 3 days of life to 1 year. Seven of these 9 cases had bleeding from the umbilicus, 3 had recurrent subcutaneous and muscle hematomas, while 4 cases had CNS bleeds of which 3 expired. Routine coagulo...
journal_title：Indian pediatrics
pub_type： 杂志文章,评审
doi：
更新日期：1992-07-01 00:00:00
